I108T (p.Ile108Thr) variant of CACNA1A (O00555)
I108T (p.Ile108Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The record also includes published literature and structural context.
I108T (p.Ile108Thr) variant details
- p.Ile108Thr
- rs2513512273
- ClinGen CA404967906
- ClinVar RCV003035069
- Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- ClinVar: Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)